Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RYR2_chr1_237037184_237838988	237534195	T T	TAAAAC TAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp1 HG01243.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0044 a0001c0002t0001 a0001c0011t0044	a0001c0002t0001g0070 a0001c0011t0044g0054 a0001c0002t0001g0070 a0001c0011t0044g0054	2	100	0.0200	5	c.290 others(24): Show c.2906+3689_2906+3690insCAAAA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	25/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594897	T T	TGTTTG TGTTTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA21309.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0031 a0001c0011 a0002c0031	a0001c0011t0004 a0002c0031t0025 a0001c0011t0004 a0002c0031t0025	a0001c0011t0004g0064 a0002c0031t0025g0056 a0001c0011t0004g0064 a0002c0031t0025g0056	2	100	0.0200	5	c.443 others(22): Show c.4437-601_4437-600insGTTTG		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104						chr1	TogoVar
RYR2_chr1_237037184_237838988	237620364	T T	TAAATC TAAATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(72): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18962.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(37): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0001c0022 a0001c0023 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0036 a0001c0037 a0001c0040 a0001c0042 a0001c0044 a0001c0045 a0001c0047 a0001c0049 a0002c0009 a0002c0012 a0002c0024 a0002c0025 a0002c0035 a0002c0038 a0002c0039 a0003c0006 a0003c0013 a0003c0021 a0003c0043 a0005c0046	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(65): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0002t0026 a0001c0002t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0004t0020 a0001c0004t0030 a0001c0005t0012 a0001c0005t0034 a0001c0007t0001 a0001c0007t0019 a0001c0007t0024 a0001c0008t0027 a0001c0008t0042 a0001c0010t0004 a0001c0010t0029 a0001c0011t0004 a0001c0011t0044 a0001c0014t0035 a0001c0015t0006 a0001c0016t0033 a0001c0017t0037 a0001c0019t0022 a0001c0022t0014 a0001c0023t0003 a0001c0026t0004 a0001c0027t0002 a0001c0028t0007 a0001c0029t0008 a0001c0036t0003 a0001c0037t0010 a0001c0040t0039 a0001c0042t0017 a0001c0044t0002 a0001c0045t0001 a0001c0047t0002 a0001c0049t0009 a0002c0009t0004 a0002c0009t0008 a0002c0012t0023 a0002c0024t0005 a0002c0025t0040 a0002c0035t0021 a0002c0038t0043 a0002c0039t0036 a0003c0006t0001 a0003c0006t0002 a0003c0006t0004 a0003c0013t0003 a0003c0021t0001 a0003c0043t0002 a0005c0046t0010	a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0089 others(72): Show a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0089 a0001c0001t0003g0100 a0001c0001t0006g0025 a0001c0001t0015g0069 a0001c0001t0041g0001 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0002g0022 a0001c0002t0003g0008 a0001c0002t0003g0052 a0001c0002t0009g0021 a0001c0002t0013g0017 a0001c0002t0026g0059 a0001c0002t0031g0033 a0001c0003t0001g0063 a0001c0003t0001g0078 a0001c0003t0002g0087 a0001c0003t0003g0046 a0001c0003t0003g0084 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0004t0004g0045 a0001c0004t0018g0047 a0001c0004t0020g0093 a0001c0004t0030g0005 a0001c0005t0012g0004 a0001c0005t0034g0028 a0001c0007t0001g0020 a0001c0007t0019g0057 a0001c0007t0024g0048 a0001c0008t0027g0081 a0001c0008t0042g0002 a0001c0010t0004g0097 a0001c0010t0029g0051 a0001c0011t0004g0064 a0001c0011t0044g0054 a0001c0014t0035g0031 a0001c0015t0006g0034 a0001c0016t0033g0024 a0001c0017t0037g0032 a0001c0019t0022g0035 a0001c0022t0014g0066 a0001c0023t0003g0071 a0001c0026t0004g0055 a0001c0027t0002g0085 a0001c0028t0007g0062 a0001c0029t0008g0090 a0001c0036t0003g0038 a0001c0037t0010g0037 a0001c0040t0039g0095 a0001c0042t0017g0050 a0001c0044t0002g0014 a0001c0045t0001g0073 a0001c0047t0002g0077 a0001c0049t0009g0044 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0023g0074 a0002c0024t0005g0013 a0002c0025t0040g0003 a0002c0035t0021g0010 a0002c0038t0043g0096 a0002c0039t0036g0030 a0003c0006t0001g0083 a0003c0006t0002g0006 a0003c0006t0002g0094 a0003c0006t0004g0088 a0003c0013t0003g0086 a0003c0021t0001g0019 a0003c0043t0002g0068 a0005c0046t0010g0080	75	100	0.7500	5	c.591 others(24): Show c.5916+2881_5916+2882insTCAAA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237801541	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp2 HG03669.hp1 others(1): Show HG03453.hp2 HG03516.hp2 HG03669.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0016 others(1): Show a0001c0002 a0001c0004 a0001c0016 a0001c0048	a0001c0002t0013 a0001c0004t0002 a0001c0016t0033 others(1): Show a0001c0002t0013 a0001c0004t0002 a0001c0016t0033 a0001c0048t0001	a0001c0002t0013g0017 a0001c0004t0002g0092 a0001c0016t0033g0024 others(1): Show a0001c0002t0013g0017 a0001c0004t0002g0092 a0001c0016t0033g0024 a0001c0048t0001g0007	4	100	0.0400	5	c.140 others(24): Show c.14091-303_14091-299dupAAAAA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	97/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33336546	G G	GAAAGA GAAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02071.hp2 HG02155.hp1 others(2): Show HG01891.hp2 HG02071.hp2 HG02155.hp1 NA18747.hp1 NA19062.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0002 a0001c0003 a0002c0051 others(2): Show a0001c0002 a0001c0003 a0002c0051 a0004c0068 a0008c0019	a0001c0002t0001 a0001c0003t0001 a0002c0051t0007 others(2): Show a0001c0002t0001 a0001c0003t0001 a0002c0051t0007 a0004c0068t0001 a0008c0019t0001	a0001c0002t0001g0018 a0001c0003t0001g0032 a0002c0051t0007g0136 others(2): Show a0001c0002t0001g0018 a0001c0003t0001g0032 a0002c0051t0007g0136 a0004c0068t0001g0033 a0008c0019t0001g0001	5	154	0.0325	5	c.51+ others(22): Show c.51+25451_51+25452insAAGAA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33337056	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02559.hp1 HG03579.hp2 others(3): Show HG01106.hp1 HG02559.hp1 HG03579.hp2 NA18906.hp2 NA19067.hp1 NA21309.hp1	a0001 a0007 a0013 others(3): Show a0001 a0007 a0013 a0031 a0045 a0048	a0001c0001 a0007c0072 a0013c0124 others(3): Show a0001c0001 a0007c0072 a0013c0124 a0031c0052 a0045c0045 a0048c0119	a0001c0001t0005 a0007c0072t0004 a0013c0124t0003 others(3): Show a0001c0001t0005 a0007c0072t0004 a0013c0124t0003 a0031c0052t0001 a0045c0045t0002 a0048c0119t0003	a0001c0001t0005g0008 a0007c0072t0004g0045 a0013c0124t0003g0047 others(3): Show a0001c0001t0005g0008 a0007c0072t0004g0045 a0013c0124t0003g0047 a0031c0052t0001g0137 a0045c0045t0002g0133 a0048c0119t0003g0048	6	154	0.0390	5	c.51+ others(22): Show c.51+25982_51+25986dupAAAAA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33368338	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02717.hp2 HG02922.hp1 others(4): Show HG02040.hp1 HG02717.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp1 NA18747.hp2 NA19005.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0037 a0038	a0001c0001 a0001c0058 a0002c0088 others(4): Show a0001c0001 a0001c0058 a0002c0088 a0004c0006 a0008c0007 a0037c0039 a0038c0020	a0001c0001t0002 a0001c0058t0002 a0002c0088t0002 others(4): Show a0001c0001t0002 a0001c0058t0002 a0002c0088t0002 a0004c0006t0005 a0008c0007t0001 a0037c0039t0001 a0038c0020t0001	a0001c0001t0002g0101 a0001c0058t0002g0073 a0002c0088t0002g0072 others(4): Show a0001c0001t0002g0101 a0001c0058t0002g0073 a0002c0088t0002g0072 a0004c0006t0005g0098 a0008c0007t0001g0100 a0037c0039t0001g0053 a0038c0020t0001g0074	7	154	0.0455	5	c.51+ others(22): Show c.51+57263_51+57267dupTTTTT		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33382319	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01255.hp2 others(22): Show HG01070.hp1 HG01071.hp2 HG01255.hp2 HG01496.hp1 HG02486.hp1 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG04184.hp2 NA18981.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0006 a0007 a0012 a0015 a0029 a0031 a0034 a0037 a0038 a0039 a0045 a0047	a0001c0002 a0001c0037 a0001c0046 others(21): Show a0001c0002 a0001c0037 a0001c0046 a0001c0047 a0001c0058 a0001c0084 a0001c0098 a0002c0088 a0002c0089 a0003c0107 a0006c0048 a0007c0021 a0007c0072 a0007c0073 a0012c0011 a0015c0104 a0029c0050 a0031c0052 a0034c0105 a0037c0039 a0038c0020 a0039c0023 a0045c0045 a0047c0056	a0001c0002t0002 a0001c0037t0003 a0001c0046t0011 others(21): Show a0001c0002t0002 a0001c0037t0003 a0001c0046t0011 a0001c0047t0001 a0001c0058t0002 a0001c0084t0003 a0001c0098t0001 a0002c0088t0002 a0002c0089t0008 a0003c0107t0002 a0006c0048t0004 a0007c0021t0001 a0007c0072t0004 a0007c0073t0001 a0012c0011t0009 a0015c0104t0002 a0029c0050t0003 a0031c0052t0001 a0034c0105t0002 a0037c0039t0001 a0038c0020t0001 a0039c0023t0004 a0045c0045t0002 a0047c0056t0001	a0001c0002t0002g0102 a0001c0037t0003g0089 a0001c0046t0011g0065 others(22): Show a0001c0002t0002g0102 a0001c0037t0003g0089 a0001c0046t0011g0065 a0001c0047t0001g0135 a0001c0058t0002g0073 a0001c0084t0003g0054 a0001c0098t0001g0151 a0002c0088t0002g0072 a0002c0089t0008g0130 a0003c0107t0002g0080 a0006c0048t0004g0002 a0007c0021t0001g0153 a0007c0072t0004g0045 a0007c0073t0001g0138 a0012c0011t0009g0066 a0012c0011t0009g0067 a0015c0104t0002g0129 a0029c0050t0003g0131 a0031c0052t0001g0137 a0034c0105t0002g0134 a0037c0039t0001g0053 a0038c0020t0001g0074 a0039c0023t0004g0068 a0045c0045t0002g0133 a0047c0056t0001g0093	25	154	0.1623	5	c.51+ others(22): Show c.51+71241_51+71245dupTTTTT		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33385710	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(54): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00558.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG03688.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18959.hp2 NA18983.hp2 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19056.hp2 NA19062.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0024 a0028 a0030 a0033 a0044 a0050 a0052	a0001c0001 a0001c0002 a0001c0003 others(49): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0001c0096 a0001c0101 a0002c0049 a0002c0051 a0002c0087 a0002c0090 a0002c0091 a0002c0093 a0003c0012 a0003c0035 a0003c0043 a0003c0065 a0003c0077 a0003c0085 a0004c0006 a0004c0016 a0004c0068 a0004c0070 a0005c0008 a0005c0022 a0005c0028 a0005c0030 a0005c0040 a0006c0042 a0006c0062 a0006c0097 a0007c0026 a0008c0007 a0008c0018 a0008c0019 a0009c0054 a0010c0017 a0011c0123 a0013c0124 a0014c0025 a0016c0111 a0024c0075 a0028c0115 a0030c0100 a0033c0066 a0044c0074 a0050c0103 a0052c0033	a0001c0001t0002 a0001c0001t0010 a0001c0002t0007 others(51): Show a0001c0001t0002 a0001c0001t0010 a0001c0002t0007 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0009t0002 a0001c0010t0001 a0001c0013t0001 a0001c0015t0001 a0001c0096t0001 a0001c0101t0001 a0002c0049t0003 a0002c0051t0007 a0002c0087t0001 a0002c0090t0001 a0002c0091t0003 a0002c0093t0004 a0003c0012t0003 a0003c0035t0004 a0003c0043t0001 a0003c0065t0002 a0003c0077t0003 a0003c0085t0002 a0004c0006t0001 a0004c0016t0007 a0004c0068t0001 a0004c0070t0001 a0005c0008t0001 a0005c0022t0002 a0005c0028t0003 a0005c0030t0001 a0005c0040t0013 a0006c0042t0001 a0006c0062t0001 a0006c0097t0001 a0007c0026t0002 a0008c0007t0001 a0008c0018t0003 a0008c0019t0001 a0009c0054t0001 a0010c0017t0012 a0011c0123t0002 a0013c0124t0003 a0014c0025t0001 a0016c0111t0003 a0024c0075t0002 a0028c0115t0003 a0030c0100t0001 a0033c0066t0002 a0044c0074t0002 a0050c0103t0001 a0052c0033t0003	a0001c0001t0002g0030 a0001c0001t0010g0094 a0001c0002t0007g0146 others(54): Show a0001c0001t0002g0030 a0001c0001t0010g0094 a0001c0002t0007g0146 a0001c0003t0006g0029 a0001c0004t0001g0005 a0001c0005t0001g0127 a0001c0005t0003g0104 a0001c0009t0002g0099 a0001c0009t0002g0132 a0001c0010t0001g0142 a0001c0013t0001g0026 a0001c0015t0001g0077 a0001c0015t0001g0118 a0001c0096t0001g0120 a0001c0101t0001g0128 a0002c0049t0003g0013 a0002c0051t0007g0136 a0002c0087t0001g0039 a0002c0090t0001g0076 a0002c0091t0003g0154 a0002c0093t0004g0050 a0003c0012t0003g0064 a0003c0012t0003g0113 a0003c0035t0004g0111 a0003c0043t0001g0106 a0003c0065t0002g0150 a0003c0077t0003g0012 a0003c0085t0002g0057 a0004c0006t0001g0149 a0004c0016t0007g0116 a0004c0068t0001g0033 a0004c0070t0001g0010 a0005c0008t0001g0019 a0005c0022t0002g0147 a0005c0028t0003g0086 a0005c0030t0001g0007 a0005c0040t0013g0145 a0006c0042t0001g0031 a0006c0062t0001g0107 a0006c0097t0001g0081 a0007c0026t0002g0108 a0008c0007t0001g0097 a0008c0018t0003g0034 a0008c0019t0001g0001 a0009c0054t0001g0112 a0010c0017t0012g0079 a0011c0123t0002g0055 a0013c0124t0003g0047 a0014c0025t0001g0058 a0016c0111t0003g0035 a0024c0075t0002g0141 a0028c0115t0003g0011 a0030c0100t0001g0021 a0033c0066t0002g0004 a0044c0074t0002g0148 a0050c0103t0001g0037 a0052c0033t0003g0152	57	154	0.3701	5	c.51+ others(22): Show c.51+74621_51+74625dupTTTTT		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33450087	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp2 others(10): Show HG00323.hp1 HG00323.hp2 HG00558.hp2 HG02071.hp1 HG02155.hp1 HG02451.hp1 HG03017.hp1 HG03688.hp2 HG04184.hp1 NA18747.hp2 NA18950.hp1 NA18981.hp2 NA19056.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0028	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0096 a0004c0006 a0004c0069 a0006c0097 a0028c0115	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0096t0001 a0004c0006t0001 a0004c0069t0006 a0006c0097t0001 a0028c0115t0003	a0001c0001t0001g0140 a0001c0001t0002g0101 a0001c0002t0001g0018 others(10): Show a0001c0001t0001g0140 a0001c0001t0002g0101 a0001c0002t0001g0018 a0001c0002t0002g0102 a0001c0002t0007g0146 a0001c0004t0001g0027 a0001c0005t0001g0083 a0001c0005t0003g0104 a0001c0096t0001g0120 a0004c0006t0001g0119 a0004c0069t0006g0009 a0006c0097t0001g0081 a0028c0115t0003g0011	13	154	0.0844	5	c.52- others(22): Show c.52-23312_52-23308dupAAAAA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33460940	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp1 HG01891.hp1 others(15): Show HG01255.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03209.hp2 HG06807.hp2 NA18522.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0025 a0036 a0054	a0001c0010 a0001c0037 a0001c0083 others(14): Show a0001c0010 a0001c0037 a0001c0083 a0002c0044 a0002c0049 a0002c0091 a0002c0093 a0003c0043 a0003c0107 a0003c0122 a0005c0032 a0006c0048 a0007c0026 a0007c0073 a0025c0036 a0036c0064 a0054c0067	a0001c0010t0001 a0001c0037t0003 a0001c0083t0001 others(14): Show a0001c0010t0001 a0001c0037t0003 a0001c0083t0001 a0002c0044t0003 a0002c0049t0003 a0002c0091t0003 a0002c0093t0004 a0003c0043t0001 a0003c0107t0002 a0003c0122t0008 a0005c0032t0003 a0006c0048t0004 a0007c0026t0002 a0007c0073t0001 a0025c0036t0010 a0036c0064t0003 a0054c0067t0004	a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0037t0003g0089 others(15): Show a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0037t0003g0089 a0001c0083t0001g0143 a0002c0044t0003g0105 a0002c0049t0003g0013 a0002c0091t0003g0154 a0002c0093t0004g0050 a0003c0043t0001g0106 a0003c0107t0002g0080 a0003c0122t0008g0062 a0005c0032t0003g0071 a0006c0048t0004g0002 a0007c0026t0002g0108 a0007c0073t0001g0138 a0025c0036t0010g0088 a0036c0064t0003g0052 a0054c0067t0004g0069	18	154	0.1169	5	c.52- others(22): Show c.52-12461_52-12457dupTTTTT		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33475050	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG03195.hp2 HG02622.hp2 HG02630.hp2 HG03195.hp2	a0003 a0040 a0003 a0040	a0003c0077 a0003c0078 a0040c0038 a0003c0077 a0003c0078 a0040c0038	a0003c0077t0003 a0003c0078t0003 a0040c0038t0008 a0003c0077t0003 a0003c0078t0003 a0040c0038t0008	a0003c0077t0003g0012 a0003c0078t0003g0024 a0040c0038t0008g0016 a0003c0077t0003g0012 a0003c0078t0003g0024 a0040c0038t0008g0016	3	154	0.0195	5	c.171 others(22): Show c.171+1518_171+1522dupTTTTG		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	2/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33477575	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01243.hp2 others(26): Show HG01070.hp1 HG01071.hp2 HG01243.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0007 a0011 a0012 a0014 a0024 a0027 a0032 a0037 a0038 a0039 a0045 a0054	a0001c0037 a0001c0047 a0001c0058 others(25): Show a0001c0037 a0001c0047 a0001c0058 a0001c0098 a0001c0121 a0002c0044 a0002c0088 a0002c0091 a0002c0092 a0002c0120 a0003c0012 a0003c0085 a0003c0122 a0005c0008 a0005c0032 a0007c0026 a0011c0123 a0012c0011 a0014c0025 a0014c0027 a0024c0075 a0027c0125 a0032c0076 a0037c0039 a0038c0020 a0039c0023 a0045c0045 a0054c0067	a0001c0037t0003 a0001c0047t0001 a0001c0058t0002 others(25): Show a0001c0037t0003 a0001c0047t0001 a0001c0058t0002 a0001c0098t0001 a0001c0121t0002 a0002c0044t0003 a0002c0088t0002 a0002c0091t0003 a0002c0092t0002 a0002c0120t0001 a0003c0012t0003 a0003c0085t0002 a0003c0122t0008 a0005c0008t0001 a0005c0032t0003 a0007c0026t0002 a0011c0123t0002 a0012c0011t0009 a0014c0025t0001 a0014c0027t0001 a0024c0075t0002 a0027c0125t0001 a0032c0076t0001 a0037c0039t0001 a0038c0020t0001 a0039c0023t0004 a0045c0045t0002 a0054c0067t0004	a0001c0037t0003g0089 a0001c0047t0001g0135 a0001c0058t0002g0073 others(26): Show a0001c0037t0003g0089 a0001c0047t0001g0135 a0001c0058t0002g0073 a0001c0098t0001g0151 a0001c0121t0002g0121 a0002c0044t0003g0105 a0002c0088t0002g0072 a0002c0091t0003g0154 a0002c0092t0002g0144 a0002c0120t0001g0090 a0003c0012t0003g0064 a0003c0085t0002g0057 a0003c0122t0008g0062 a0005c0008t0001g0124 a0005c0032t0003g0071 a0007c0026t0002g0108 a0011c0123t0002g0055 a0012c0011t0009g0066 a0012c0011t0009g0067 a0014c0025t0001g0058 a0014c0027t0001g0046 a0024c0075t0002g0141 a0027c0125t0001g0059 a0032c0076t0001g0056 a0037c0039t0001g0053 a0038c0020t0001g0074 a0039c0023t0004g0068 a0045c0045t0002g0133 a0054c0067t0004g0069	29	154	0.1883	5	c.171 others(22): Show c.171+4051_171+4055dupAAAAA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	2/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33537416	G G	GTAACT GTAACT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG03130.hp2 others(3): Show HG02717.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03516.hp1 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0014 a0001c0047 a0002c0080 others(2): Show a0001c0014 a0001c0047 a0002c0080 a0002c0088 a0005c0040	a0001c0014t0002 a0001c0047t0001 a0002c0080t0002 others(2): Show a0001c0014t0002 a0001c0047t0001 a0002c0080t0002 a0002c0088t0002 a0005c0040t0013	a0001c0014t0002g0015 a0001c0014t0002g0049 a0001c0047t0001g0135 others(3): Show a0001c0014t0002g0015 a0001c0014t0002g0049 a0001c0047t0001g0135 a0002c0080t0002g0060 a0002c0088t0002g0072 a0005c0040t0013g0145	6	154	0.0390	5	c.434 others(22): Show c.434-1933_434-1932insAACTT		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	5/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33578767	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00735.hp1 others(62): Show HG00323.hp1 HG00642.hp2 HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02155.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18981.hp1 NA18983.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA20300.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0015 a0020 a0021 a0022 a0023 a0024 a0026 a0030 a0032 a0034 a0035 a0044 a0046 a0048 a0049 a0050	a0001c0003 a0001c0005 a0001c0013 others(50): Show a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0079 a0001c0082 a0001c0083 a0001c0084 a0001c0096 a0001c0098 a0001c0099 a0001c0101 a0001c0121 a0002c0080 a0002c0087 a0002c0088 a0002c0089 a0002c0090 a0002c0092 a0002c0120 a0003c0077 a0003c0078 a0003c0085 a0003c0107 a0003c0122 a0004c0006 a0004c0016 a0004c0114 a0006c0097 a0007c0073 a0008c0007 a0008c0018 a0008c0019 a0010c0017 a0010c0113 a0011c0123 a0015c0104 a0020c0106 a0021c0117 a0022c0116 a0023c0108 a0024c0075 a0026c0118 a0030c0100 a0032c0076 a0034c0105 a0035c0094 a0044c0074 a0046c0110 a0048c0119 a0049c0112 a0050c0103	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(57): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0005t0001 a0001c0005t0003 a0001c0013t0001 a0001c0013t0005 a0001c0014t0002 a0001c0015t0001 a0001c0079t0006 a0001c0082t0002 a0001c0083t0001 a0001c0084t0003 a0001c0096t0001 a0001c0098t0001 a0001c0099t0002 a0001c0101t0001 a0001c0121t0002 a0002c0080t0002 a0002c0087t0001 a0002c0088t0002 a0002c0089t0008 a0002c0090t0001 a0002c0092t0002 a0002c0120t0001 a0003c0077t0003 a0003c0078t0003 a0003c0085t0002 a0003c0107t0002 a0003c0122t0008 a0004c0006t0001 a0004c0006t0005 a0004c0016t0002 a0004c0016t0007 a0004c0114t0001 a0006c0097t0001 a0007c0073t0001 a0008c0007t0001 a0008c0018t0003 a0008c0019t0001 a0010c0017t0003 a0010c0017t0012 a0010c0113t0003 a0011c0123t0002 a0015c0104t0002 a0020c0106t0001 a0021c0117t0004 a0022c0116t0006 a0023c0108t0003 a0024c0075t0002 a0026c0118t0002 a0030c0100t0001 a0032c0076t0001 a0034c0105t0002 a0035c0094t0003 a0044c0074t0002 a0046c0110t0005 a0048c0119t0003 a0049c0112t0001 a0050c0103t0001	a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0002g0036 others(62): Show a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0002g0036 a0001c0003t0006g0029 a0001c0005t0001g0083 a0001c0005t0001g0127 a0001c0005t0003g0104 a0001c0013t0001g0026 a0001c0013t0005g0084 a0001c0014t0002g0015 a0001c0014t0002g0049 a0001c0015t0001g0118 a0001c0079t0006g0038 a0001c0082t0002g0025 a0001c0083t0001g0143 a0001c0084t0003g0054 a0001c0096t0001g0120 a0001c0098t0001g0151 a0001c0099t0002g0139 a0001c0101t0001g0128 a0001c0121t0002g0121 a0002c0080t0002g0060 a0002c0087t0001g0039 a0002c0088t0002g0072 a0002c0089t0008g0130 a0002c0090t0001g0076 a0002c0092t0002g0144 a0002c0120t0001g0090 a0003c0077t0003g0012 a0003c0078t0003g0024 a0003c0085t0002g0057 a0003c0107t0002g0080 a0003c0122t0008g0062 a0004c0006t0001g0119 a0004c0006t0001g0149 a0004c0006t0005g0098 a0004c0016t0002g0103 a0004c0016t0007g0116 a0004c0114t0001g0095 a0006c0097t0001g0081 a0007c0073t0001g0138 a0008c0007t0001g0097 a0008c0007t0001g0100 a0008c0018t0003g0034 a0008c0019t0001g0001 a0010c0017t0003g0017 a0010c0017t0012g0079 a0010c0113t0003g0020 a0011c0123t0002g0055 a0015c0104t0002g0129 a0020c0106t0001g0085 a0021c0117t0004g0122 a0022c0116t0006g0042 a0023c0108t0003g0003 a0024c0075t0002g0141 a0026c0118t0002g0123 a0030c0100t0001g0021 a0032c0076t0001g0056 a0034c0105t0002g0134 a0035c0094t0003g0070 a0044c0074t0002g0148 a0046c0110t0005g0040 a0048c0119t0003g0048 a0049c0112t0001g0028 a0050c0103t0001g0037	65	154	0.4221	5	c.126 others(24): Show c.1269-1205_1269-1204insGAAAA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	12/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33598246	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00558.hp1 others(35): Show HG00323.hp1 HG00408.hp1 HG00558.hp1 HG01070.hp1 HG01071.hp2 HG01884.hp2 HG01891.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02155.hp1 HG02486.hp1 HG02559.hp1 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03688.hp2 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18950.hp1 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18981.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1	a0001 a0002 a0004 others(15): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0025 a0029 a0031 a0047 a0050 a0051	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0013 a0002c0044 a0002c0051 a0004c0006 a0005c0029 a0005c0032 a0006c0062 a0006c0097 a0007c0021 a0008c0019 a0009c0054 a0011c0086 a0012c0011 a0013c0057 a0014c0025 a0025c0036 a0029c0050 a0031c0052 a0047c0056 a0050c0103 a0051c0060	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0009t0002 a0001c0013t0001 a0001c0013t0005 a0002c0044t0003 a0002c0051t0007 a0004c0006t0001 a0005c0029t0001 a0005c0032t0003 a0006c0062t0001 a0006c0097t0001 a0007c0021t0001 a0008c0019t0001 a0009c0054t0001 a0011c0086t0002 a0012c0011t0009 a0013c0057t0003 a0014c0025t0001 a0025c0036t0010 a0029c0050t0003 a0031c0052t0001 a0047c0056t0001 a0050c0103t0001 a0051c0060t0001	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0002g0030 others(35): Show a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0002g0030 a0001c0001t0002g0101 a0001c0001t0005g0008 a0001c0002t0001g0018 a0001c0002t0002g0102 a0001c0002t0007g0146 a0001c0003t0002g0036 a0001c0004t0001g0027 a0001c0004t0001g0117 a0001c0005t0001g0083 a0001c0009t0002g0099 a0001c0009t0002g0132 a0001c0013t0001g0026 a0001c0013t0005g0084 a0002c0044t0003g0105 a0002c0051t0007g0136 a0004c0006t0001g0119 a0004c0006t0001g0149 a0005c0029t0001g0075 a0005c0032t0003g0071 a0006c0062t0001g0107 a0006c0097t0001g0081 a0007c0021t0001g0153 a0008c0019t0001g0001 a0009c0054t0001g0112 a0011c0086t0002g0110 a0012c0011t0009g0066 a0012c0011t0009g0067 a0013c0057t0003g0082 a0014c0025t0001g0058 a0025c0036t0010g0088 a0029c0050t0003g0131 a0031c0052t0001g0137 a0047c0056t0001g0093 a0050c0103t0001g0037 a0051c0060t0001g0125	38	154	0.2468	5	c.178 others(24): Show c.1789-3161_1789-3157dupAAAAA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	16/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33668063	G G	GAAAAA GAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02738.hp2 others(4): Show HG02109.hp2 HG02615.hp2 HG02738.hp2 HG03098.hp1 HG03471.hp1 NA18981.hp1 NA19067.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0032 a0049	a0001c0037 a0001c0098 a0001c0101 others(4): Show a0001c0037 a0001c0098 a0001c0101 a0004c0114 a0005c0008 a0032c0076 a0049c0112	a0001c0037t0003 a0001c0098t0001 a0001c0101t0001 others(4): Show a0001c0037t0003 a0001c0098t0001 a0001c0101t0001 a0004c0114t0001 a0005c0008t0001 a0032c0076t0001 a0049c0112t0001	a0001c0037t0003g0089 a0001c0098t0001g0151 a0001c0101t0001g0128 others(4): Show a0001c0037t0003g0089 a0001c0098t0001g0151 a0001c0101t0001g0128 a0004c0114t0001g0095 a0005c0008t0001g0019 a0032c0076t0001g0056 a0049c0112t0001g0028	7	154	0.0455	5	c.562 others(24): Show c.5620-1280_5620-1276dupAAAAA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33741598	A A	AGTTTT AGTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01884.hp1 HG00140.hp2 HG01884.hp1	a0002 a0005 a0002 a0005	a0002c0049 a0005c0030 a0002c0049 a0005c0030	a0002c0049t0003 a0005c0030t0001 a0002c0049t0003 a0005c0030t0001	a0002c0049t0003g0013 a0005c0030t0001g0007 a0002c0049t0003g0013 a0005c0030t0001g0007	2	154	0.0130	5	c.782 others(22): Show c.7821-742_7821-738dupGTTTT		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	51/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33765030	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG01109.hp1 others(30): Show HG00558.hp2 HG00642.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18983.hp2 NA19005.hp1 NA19064.hp2 NA19067.hp2 NA20300.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0014 a0017 a0025 a0031 a0033 a0035 a0038 a0041 a0051	a0001c0001 a0001c0005 a0001c0010 others(26): Show a0001c0001 a0001c0005 a0001c0010 a0001c0013 a0001c0037 a0001c0047 a0001c0079 a0001c0099 a0001c0101 a0002c0049 a0002c0087 a0002c0088 a0002c0089 a0002c0120 a0003c0012 a0004c0114 a0007c0026 a0008c0019 a0009c0054 a0010c0113 a0014c0025 a0017c0109 a0025c0036 a0031c0052 a0033c0066 a0035c0094 a0038c0020 a0041c0041 a0051c0060	a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 others(28): Show a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 a0001c0005t0003 a0001c0010t0001 a0001c0013t0001 a0001c0037t0003 a0001c0047t0001 a0001c0079t0006 a0001c0099t0002 a0001c0101t0001 a0002c0049t0003 a0002c0087t0001 a0002c0088t0002 a0002c0089t0008 a0002c0120t0001 a0003c0012t0003 a0004c0114t0001 a0007c0026t0002 a0008c0019t0001 a0009c0054t0001 a0010c0113t0003 a0014c0025t0001 a0017c0109t0003 a0025c0036t0010 a0031c0052t0001 a0033c0066t0002 a0035c0094t0003 a0038c0020t0001 a0041c0041t0002 a0051c0060t0001	a0001c0001t0001g0140 a0001c0001t0010g0094 a0001c0005t0001g0127 others(30): Show a0001c0001t0001g0140 a0001c0001t0010g0094 a0001c0005t0001g0127 a0001c0005t0003g0104 a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0013t0001g0026 a0001c0037t0003g0089 a0001c0047t0001g0135 a0001c0079t0006g0038 a0001c0099t0002g0139 a0001c0101t0001g0128 a0002c0049t0003g0013 a0002c0087t0001g0039 a0002c0088t0002g0072 a0002c0089t0008g0130 a0002c0120t0001g0090 a0003c0012t0003g0064 a0003c0012t0003g0113 a0004c0114t0001g0095 a0007c0026t0002g0108 a0008c0019t0001g0001 a0009c0054t0001g0112 a0010c0113t0003g0020 a0014c0025t0001g0058 a0017c0109t0003g0087 a0025c0036t0010g0088 a0031c0052t0001g0137 a0033c0066t0002g0004 a0035c0094t0003g0070 a0038c0020t0001g0074 a0041c0041t0002g0114 a0051c0060t0001g0125	33	154	0.2143	5	c.870 others(24): Show c.8706-3612_8706-3608dupAAAAA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	60/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789659	T T	TATATA TATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02055.hp2 HG02109.hp2 others(4): Show HG00323.hp2 HG02055.hp2 HG02109.hp2 HG02647.hp1 HG02976.hp2 HG03486.hp1 HG06807.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0015 a0023	a0001c0084 a0003c0122 a0004c0069 others(4): Show a0001c0084 a0003c0122 a0004c0069 a0005c0008 a0005c0032 a0015c0104 a0023c0108	a0001c0084t0003 a0003c0122t0008 a0004c0069t0006 others(4): Show a0001c0084t0003 a0003c0122t0008 a0004c0069t0006 a0005c0008t0001 a0005c0032t0003 a0015c0104t0002 a0023c0108t0003	a0001c0084t0003g0054 a0003c0122t0008g0062 a0004c0069t0006g0009 others(4): Show a0001c0084t0003g0054 a0003c0122t0008g0062 a0004c0069t0006g0009 a0005c0008t0001g0019 a0005c0032t0003g0071 a0015c0104t0002g0129 a0023c0108t0003g0003	7	154	0.0455	5	c.983 others(24): Show c.9830+1201_9830+1202insATATA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103						chr15	TogoVar
RYR3_chr15_33305967_33871102	33822645	C C	CTTTCA CTTTCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02717.hp1 HG01070.hp1 HG01071.hp2 HG02717.hp1	a0012 a0034 a0012 a0034	a0012c0011 a0034c0105 a0012c0011 a0034c0105	a0012c0011t0009 a0034c0105t0002 a0012c0011t0009 a0034c0105t0002	a0012c0011t0009g0066 a0012c0011t0009g0067 a0034c0105t0002g0134 a0012c0011t0009g0066 a0012c0011t0009g0067 a0034c0105t0002g0134	3	154	0.0195	5	c.109 others(24): Show c.10996-350_10996-346dupTTTCA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	80/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33863431	G G	GAAGGA GAAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp2 HG02965.hp2 NA18522.hp2	a0001 a0038 a0001 a0038	a0001c0083 a0038c0020 a0001c0083 a0038c0020	a0001c0083t0001 a0038c0020t0001 a0001c0083t0001 a0038c0020t0001	a0001c0083t0001g0143 a0038c0020t0001g0074 a0001c0083t0001g0143 a0038c0020t0001g0074	2	154	0.0130	5	c.144 others(24): Show c.14466-706_14466-702dupAAGGA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	102/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A12_chr1_153368711_153380621	153369737	C C	CTCCCT CTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02109.hp1 HG02109.hp2 others(13): Show HG01433.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03516.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0001g0001 a0001c0001t0002g0004	16	366	0.0437	5	c.40 others(16): Show c.4089_*4090insAGGGA		S100A12	ENSG00000163221.9	transcript	ENST00000368737.5	protein_coding					3973		chr1	TogoVar
S100A6_chr1_153529599_153540991	153539448	A A	ATATAT ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 NA19083.hp1 NA19083.hp2 HG01993.hp1 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	380	0.0079	5	c.-35 others(16): Show c.-3522_-3521insATATA		S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding					3458		chr1	TogoVar
S100G_chrX_16645158_16659670	16647255	C C	CTTTTT CTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG03098.hp1 HG01069.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0007 a0001c0001t0004g0019 a0001c0001t0001g0007 a0001c0001t0004g0019	2	348	0.0058	5	c.-29 others(16): Show c.-2957_-2956insTTTTT		S100G	ENSG00000169906.5	transcript	ENST00000380200.3	protein_coding					2902		chrX	TogoVar
S100G_chrX_16645158_16659670	16648432	T T	TTGAAA TTGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	5	c.-17 others(16): Show c.-1780_-1779insTGAAA		S100G	ENSG00000169906.5	transcript	ENST00000380200.3	protein_coding					1725		chrX	TogoVar
S100Z_chr5_76845014_76926650	76888367	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp1 HG02818.hp1 others(8): Show HG01167.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0005 a0002c0002t0015	a0001c0001t0001g0086 a0001c0001t0003g0065 a0001c0001t0005g0055 others(8): Show a0001c0001t0001g0086 a0001c0001t0003g0065 a0001c0001t0005g0055 a0002c0002t0001g0286 a0002c0002t0005g0007 a0002c0002t0005g0009 a0002c0002t0005g0173 a0002c0002t0005g0174 a0002c0002t0005g0178 a0002c0002t0015g0045 a0002c0002t0015g0221	11	348	0.0316	5	c.2+ others(22): Show c.2+10555_*2+10559dupTTTTT		S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR3_chr9_88986468_89010155	88990394	A A	AGAATC AGAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(208): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18968.hp1 NA18970.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0010 others(5): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0005 a0003c0004 a0004c0011 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0006 a0001c0002t0023 a0001c0010t0010 a0002c0003t0015 a0002c0003t0018 a0002c0003t0019 a0002c0005t0014 a0003c0004t0001 a0004c0011t0001 a0006c0009t0011	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(84): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0114 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0089 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0003g0018 a0001c0001t0003g0035 a0001c0001t0003g0054 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0125 a0001c0001t0004g0002 a0001c0001t0004g0024 a0001c0001t0004g0078 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0087 a0001c0001t0005g0003 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0034 a0001c0001t0005g0056 a0001c0001t0005g0070 a0001c0001t0005g0086 a0001c0001t0005g0126 a0001c0001t0007g0003 a0001c0001t0007g0010 a0001c0001t0007g0058 a0001c0001t0009g0026 a0001c0001t0009g0075 a0001c0001t0010g0077 a0001c0001t0010g0121 a0001c0001t0011g0047 a0001c0001t0013g0032 a0001c0001t0013g0053 a0001c0001t0016g0030 a0001c0001t0021g0120 a0001c0001t0022g0088 a0001c0001t0024g0123 a0001c0001t0026g0010 a0001c0001t0027g0010 a0001c0001t0028g0080 a0001c0001t0029g0003 a0001c0001t0030g0003 a0001c0001t0031g0129 a0001c0001t0032g0130 a0001c0001t0033g0128 a0001c0002t0006g0055 a0001c0002t0006g0071 a0001c0002t0023g0069 a0001c0010t0010g0062 a0002c0003t0015g0029 a0002c0003t0018g0023 a0002c0003t0019g0023 a0002c0005t0014g0057 a0002c0005t0014g0081 a0003c0004t0001g0003 a0003c0004t0001g0112 a0003c0004t0001g0113 a0004c0011t0001g0051 a0006c0009t0011g0124	211	402	0.5249	5	c.-14 others(16): Show c.-1449_-1448insGAATC		S1PR3	ENSG00000213694.7	transcript	ENST00000358157.3	protein_coding					1073		chr9	TogoVar
SAA1_chr11_18261264_18274967	18271957	C C	CAACTT CAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0012 a0013 a0014	a0001c0002 a0001c0004 a0001c0009 others(13): Show a0001c0002 a0001c0004 a0001c0009 a0001c0019 a0002c0001 a0002c0005 a0003c0003 a0004c0006 a0006c0008 a0008c0011 a0009c0016 a0009c0017 a0010c0013 a0012c0015 a0013c0014 a0014c0018	a0001c0002t0001 a0001c0004t0001 a0001c0004t0003 others(15): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0009t0001 a0001c0019t0001 a0002c0001t0001 a0002c0005t0001 a0003c0003t0001 a0004c0006t0001 a0006c0008t0001 a0008c0011t0001 a0009c0016t0001 a0009c0017t0001 a0010c0013t0001 a0012c0015t0001 a0013c0014t0001 a0014c0018t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 others(65): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0059 a0001c0004t0001g0006 a0001c0004t0001g0010 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0026 a0001c0004t0001g0038 a0001c0004t0001g0047 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0068 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0003g0006 a0001c0004t0005g0026 a0001c0009t0001g0004 a0001c0019t0001g0069 a0002c0001t0001g0007 a0002c0001t0001g0012 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0050 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0061 a0002c0005t0001g0014 a0002c0005t0001g0033 a0002c0005t0001g0034 a0002c0005t0001g0063 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0072 a0002c0005t0001g0073 a0003c0003t0001g0002 a0003c0003t0001g0017 a0003c0003t0001g0023 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0051 a0003c0003t0001g0062 a0004c0006t0001g0008 a0004c0006t0001g0035 a0004c0006t0001g0040 a0004c0006t0001g0065 a0006c0008t0001g0004 a0006c0008t0001g0074 a0008c0011t0001g0001 a0009c0016t0001g0001 a0009c0017t0001g0020 a0010c0013t0001g0002 a0012c0015t0001g0002 a0013c0014t0001g0052 a0014c0018t0001g0067	332	442	0.7511	5	c.21 others(16): Show c.2102_*2103insAACTT		SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding					1991		chr11	TogoVar
SAA2_chr11_18240240_18253668	18246050	T T	TGGAAA TGGAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG00642.hp1 HG01099.hp2 others(40): Show HG00621.hp2 HG00642.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG02004.hp1 HG02055.hp2 HG02083.hp1 HG02451.hp2 HG02809.hp1 HG03195.hp2 HG03579.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18972.hp1 NA18976.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18990.hp2 NA18995.hp2 NA19002.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0026 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0007t0001g0062	43	474	0.0907	5	c.92- others(14): Show c.92-7_92-3dupTTTCC		SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding	2/3						chr11	TogoVar
SAA4_chr11_18226355_18241802	18228270	T T	TAAATA TAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02970.hp1 HG03130.hp2 others(2): Show HG02896.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0027 a0001c0001t0001g0066 a0001c0001t0001g0067	5	418	0.0120	5	c.32 others(16): Show c.3231_*3232insTATTT		SAA4	ENSG00000148965.10	transcript	ENST00000278222.7	protein_coding					3084		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18077001	G G	GAAAAA GAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02300.hp1 others(12): Show HG01891.hp1 HG02109.hp2 HG02300.hp1 HG02486.hp1 HG02615.hp1 HG02717.hp1 HG02965.hp1 HG02976.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19011.hp1 NA19043.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0045 a0002c0002t0001g0055 a0004c0004t0001g0017 others(7): Show a0002c0002t0001g0045 a0002c0002t0001g0055 a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0027 a0004c0004t0001g0066 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0070	15	284	0.0528	5	c.33 others(16): Show c.3393_*3397dupTTTTT		SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding					3290		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18091253	A A	ACTATT ACTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(130): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18981.hp1 NA18987.hp1 NA18995.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0012 a0014	a0001c0001 a0001c0007 a0001c0016 others(8): Show a0001c0001 a0001c0007 a0001c0016 a0002c0002 a0002c0013 a0003c0003 a0004c0004 a0007c0012 a0008c0009 a0012c0019 a0014c0017	a0001c0001t0001 a0001c0007t0001 a0001c0016t0001 others(8): Show a0001c0001t0001 a0001c0007t0001 a0001c0016t0001 a0002c0002t0001 a0002c0013t0001 a0003c0003t0001 a0004c0004t0001 a0007c0012t0001 a0008c0009t0001 a0012c0019t0001 a0014c0017t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(60): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0007t0001g0008 a0001c0007t0001g0071 a0001c0007t0001g0072 a0001c0016t0001g0119 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0013t0001g0051 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0027 a0004c0004t0001g0066 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0070 a0007c0012t0001g0038 a0008c0009t0001g0028 a0012c0019t0001g0121 a0014c0017t0001g0076	133	284	0.4683	5	c.414 others(20): Show c.414-761_414-760insAATAG		SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding	4/11						chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65043615	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG01074.hp1 others(24): Show HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01952.hp2 HG01978.hp1 HG02698.hp2 HG03209.hp1 HG03492.hp1 HG03579.hp2 HG03927.hp2 NA18906.hp2 NA18939.hp2 NA18981.hp1 NA18993.hp1 NA18999.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA20805.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0002 a0007c0007 a0009c0009 a0001c0002 a0007c0007 a0009c0009	a0001c0002t0001 a0007c0007t0001 a0009c0009t0001 a0001c0002t0001 a0007c0007t0001 a0009c0009t0001	a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0046 others(3): Show a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0046 a0001c0002t0001g0049 a0007c0007t0001g0048 a0009c0009t0001g0004	27	352	0.0767	5	c.575 others(20): Show c.575-586_575-582dupAAAAA		SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATTTTT ATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01358.hp2 HG01891.hp1 others(3): Show HG01081.hp2 HG01358.hp2 HG01891.hp1 HG02280.hp2 NA18951.hp1 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0012 a0001c0003t0002g0082 others(3): Show a0001c0003t0002g0006 a0001c0003t0002g0012 a0001c0003t0002g0082 a0001c0003t0002g0086 a0001c0003t0002g0088 a0001c0003t0002g0095	6	354	0.0170	5	c.-28 others(16): Show c.-2803_-2802insTTTTT		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding					2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45697269	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01081.hp2 others(35): Show HG00438.hp2 HG00621.hp1 HG01081.hp2 HG01123.hp2 HG01256.hp1 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02083.hp1 HG02280.hp2 HG02615.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp2 NA18906.hp2 NA18951.hp1 NA18954.hp1 NA18964.hp2 NA18974.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19068.hp2 NA19077.hp2 NA19084.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0002c0001	a0001c0002t0002 a0001c0003t0002 a0001c0007t0002 others(1): Show a0001c0002t0002 a0001c0003t0002 a0001c0007t0002 a0002c0001t0001	a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0003t0002g0003 others(23): Show a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0003t0002g0003 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0012 a0001c0003t0002g0026 a0001c0003t0002g0076 a0001c0003t0002g0079 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0007t0002g0003 a0002c0001t0001g0245	38	354	0.1073	5	c.33- others(20): Show c.33-6148_33-6144dupTTTTT		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
SACM1L_chr3_45684396_45750409	45724334	T T	TGTGTG TGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18980.hp1 NA18980.hp2 HG01515.hp2 NA18980.hp1 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0012 a0002c0001t0001 a0001c0002t0012 a0002c0001t0001	a0001c0002t0012g0118 a0002c0001t0001g0196 a0002c0001t0001g0247 a0001c0002t0012g0118 a0002c0001t0001g0196 a0002c0001t0001g0247	3	354	0.0085	5	c.921 others(20): Show c.921+791_921+792insGTGTG		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding	11/19						chr3	TogoVar
SACS_chr13_23323830_23438702	23429345	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03491.hp1 HG03927.hp2 others(7): Show HG01943.hp2 HG03491.hp1 HG03927.hp2 NA18747.hp1 NA18950.hp1 NA18954.hp1 NA18994.hp2 NA18999.hp2 NA19079.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0029	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0001 a0003c0005 a0029c0057	a0001c0002t0002 a0001c0003t0007 a0001c0004t0002 others(4): Show a0001c0002t0002 a0001c0003t0007 a0001c0004t0002 a0001c0008t0001 a0002c0001t0001 a0003c0005t0001 a0029c0057t0001	a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0003t0007g0122 others(7): Show a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0003t0007g0122 a0001c0004t0002g0118 a0001c0004t0002g0124 a0001c0008t0001g0103 a0002c0001t0001g0117 a0002c0001t0001g0119 a0003c0005t0001g0125 a0029c0057t0001g0120	10	378	0.0265	5	c.-50 others(24): Show c.-502+4265_-502+4269dupAAAAA		SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	1/9						chr13	TogoVar
SAE1_chr19_47125835_47215636	47129821	C C	CTTTCT CTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01257.hp2 others(14): Show HG00438.hp1 HG00738.hp2 HG01257.hp2 HG01515.hp1 HG02109.hp1 HG02280.hp2 HG02559.hp1 HG02647.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03579.hp2 NA18522.hp1 NA18973.hp2 NA18999.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0012t0001	a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0128 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0224 a0001c0001t0001g0322 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0344 a0001c0001t0003g0032 a0001c0001t0003g0196 a0001c0012t0001g0343	17	380	0.0447	5	c.-11 others(16): Show c.-1110_-1109insTTTCT		SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding					1013		chr19	TogoVar
SAE1_chr19_47125835_47215636	47184798	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02257.hp1 HG02717.hp2 others(5): Show HG01361.hp1 HG02257.hp1 HG02717.hp2 NA18939.hp1 NA18945.hp2 NA18993.hp2 NA19078.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0148 others(5): Show a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0001g0225 a0001c0001t0001g0331 a0001c0001t0001g0338	8	380	0.0211	5	c.734 others(24): Show c.734-12395_734-12391dupGTTTT		SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47201360	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01081.hp2 others(18): Show HG00408.hp2 HG00738.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01975.hp2 HG02004.hp2 HG02027.hp1 HG02630.hp2 HG02717.hp2 HG02897.hp2 HG03516.hp2 HG03710.hp1 NA18522.hp1 NA18906.hp1 NA18946.hp1 NA18997.hp1 NA19056.hp1 NA19074.hp2 NA20300.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0004 a0007c0010t0001 a0001c0001t0001 a0001c0001t0004 a0007c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0047 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0001g0294 a0001c0001t0004g0273 a0007c0010t0001g0005	21	380	0.0553	5	c.879 others(22): Show c.879-2286_879-2282dupTTTTT		SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAFB_chr19_5618083_5673478	5642651	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01993.hp1 HG02027.hp2 others(5): Show HG01346.hp1 HG01993.hp1 HG02027.hp2 HG02129.hp2 HG02486.hp1 NA18943.hp2 NA18999.hp2 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 a0001c0001t0001 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0042 a0001c0001t0001g0188 a0001c0002t0001g0016 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0188 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0229 a0001c0002t0001g0239 a0003c0005t0001g0019	8	282	0.0284	5	c.546 others(20): Show c.546+727_546+731dupTTTTT		SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAFB_chr19_5618083_5673478	5645870	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp2 HG01993.hp2 others(1): Show HG00639.hp1 HG01952.hp2 HG01993.hp2 NA18967.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0001 a0002c0013t0001 a0001c0001t0001 a0002c0013t0001	a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0002c0013t0001g0227	4	282	0.0142	5	c.609 others(20): Show c.609+491_609+495dupGTTTT		SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAGE1_chrX_135888716_135918062	135896523	A A	ATTTAT ATTTAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02148.hp2 NA19089.hp1 HG01167.hp1 HG02148.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0018 a0001c0001t0001g0048	3	249	0.0121	5	c.87+ others(18): Show c.87+222_87+226dupTATTT		SAGE1	ENSG00000181433.12	transcript	ENST00000370709.4	protein_coding	2/19					INFO_REALIGN_3_PRIME	chrX	TogoVar
SAGSIN1_chr7_6324411_6353967	6352698	C C	CTTTTT CTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00673.hp2 others(40): Show HG00408.hp2 HG00597.hp2 HG00673.hp2 HG01175.hp2 HG01243.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02523.hp2 HG02647.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039	a0001c0001t0001g0006 a0001c0001t0001g0134 a0001c0001t0001g0141 others(40): Show a0001c0001t0001g0006 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0270 a0001c0001t0001g0353 a0001c0001t0001g0379 a0001c0001t0002g0173 a0001c0001t0002g0196 a0001c0001t0002g0350 a0001c0001t0002g0365 a0001c0001t0002g0375 a0001c0001t0002g0377 a0001c0001t0004g0005 a0001c0001t0004g0145 a0001c0001t0004g0189 a0001c0001t0004g0197 a0001c0001t0005g0359 a0001c0001t0005g0374 a0001c0001t0006g0135 a0001c0001t0006g0149 a0001c0001t0006g0382 a0001c0001t0011g0015 a0001c0001t0011g0016 a0001c0001t0011g0020 a0001c0001t0011g0021 a0001c0001t0012g0013 a0001c0001t0012g0022 a0001c0001t0014g0012 a0001c0001t0014g0014 a0001c0001t0014g0017 a0001c0001t0014g0018 a0001c0001t0033g0186 a0001c0001t0038g0410 a0001c0001t0039g0412	43	420	0.1024	5	c.-39 others(16): Show c.-3941_-3940insAAAAA		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding					3732		chr7	TogoVar
SAG_chr2_233302816_233352055	233310556	C C	CTGGAG CTGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01257.hp1 HG01258.hp2 others(3): Show HG01069.hp1 HG01257.hp1 HG01258.hp2 HG01517.hp1 HG03239.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0001 a0002c0002t0001g0329 a0002c0002t0001g0330	6	368	0.0163	5	c.75+ others(20): Show c.75+1295_75+1299dupGAGTG		SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SAG_chr2_233302816_233352055	233332663	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02647.hp2 HG03516.hp1 others(3): Show HG01175.hp1 HG02647.hp2 HG03516.hp1 HG03704.hp1 NA18947.hp1 NA19059.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0015c0017 a0001c0001 a0002c0002 a0015c0017	a0001c0001t0001 a0002c0002t0001 a0015c0017t0001 a0001c0001t0001 a0002c0002t0001 a0015c0017t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0002c0002t0001g0149 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0002c0002t0001g0149 a0002c0002t0001g0155 a0002c0002t0001g0345 a0015c0017t0001g0108	6	368	0.0163	5	c.806 others(20): Show c.806+962_806+966dupTTTTT		SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SALL1_chr16_51130982_51156270	51139874	T T	TGCTGC TGCTGC	frameshift_variant frameshift_variant	HIGH	NA18963.hp1 NA18963.hp1	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0001 a0023c0036t0001	a0023c0036t0001g0080 a0023c0036t0001g0080	1	374	0.0027	5	c.234 others(14): Show c.2343_2347dupGCAGC	p.Gln others(5): Show p.Gln783fs	SALL1	ENSG00000103449.13	transcript	ENST00000251020.9	protein_coding	2/3	2376/5134	2347/3975	783/1324			chr16	TogoVar
SALL4_chr20_51777331_51807521	51792688	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00741.hp1 others(15): Show HG00323.hp2 HG00639.hp2 HG00741.hp1 HG01081.hp1 HG01167.hp2 HG02055.hp2 HG02145.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp2 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0003 a0003c0004 a0004c0009 others(1): Show a0001c0003 a0003c0004 a0004c0009 a0009c0016	a0001c0003t0048 a0003c0004t0001 a0003c0004t0010 others(7): Show a0001c0003t0048 a0003c0004t0001 a0003c0004t0010 a0003c0004t0019 a0003c0004t0025 a0003c0004t0055 a0003c0004t0059 a0004c0009t0020 a0004c0009t0033 a0009c0016t0054	a0001c0003t0048g0191 a0003c0004t0001g0090 a0003c0004t0010g0022 others(13): Show a0001c0003t0048g0191 a0003c0004t0001g0090 a0003c0004t0010g0022 a0003c0004t0010g0093 a0003c0004t0010g0095 a0003c0004t0010g0145 a0003c0004t0010g0201 a0003c0004t0019g0046 a0003c0004t0019g0047 a0003c0004t0019g0094 a0003c0004t0025g0092 a0003c0004t0055g0091 a0003c0004t0059g0048 a0004c0009t0020g0021 a0004c0009t0033g0086 a0009c0016t0054g0166	18	384	0.0469	5	c.131 others(20): Show c.131-341_131-337dupTTTTT		SALL4	ENSG00000101115.13	transcript	ENST00000217086.9	protein_coding	1/3						chr20	TogoVar
SALL4_chr20_51777331_51807521	51798845	A A	AAAAAC AAAAAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02717.hp2 others(2): Show HG02145.hp2 HG02630.hp1 HG02717.hp2 NA18522.hp1 NA18995.hp1	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0004c0009 a0009c0016 a0002c0002 a0004c0009 a0009c0016	a0002c0002t0001 a0004c0009t0020 a0004c0009t0033 others(1): Show a0002c0002t0001 a0004c0009t0020 a0004c0009t0033 a0009c0016t0054	a0002c0002t0001g0229 a0004c0009t0020g0021 a0004c0009t0033g0086 others(1): Show a0002c0002t0001g0229 a0004c0009t0020g0021 a0004c0009t0033g0086 a0009c0016t0054g0166	5	384	0.0130	5	c.130 others(22): Show c.130+3429_130+3433dupGTTTT		SALL4	ENSG00000101115.13	transcript	ENST00000217086.9	protein_coding	1/3						chr20	TogoVar

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